Canonical Allele Identifier: CA8576907

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2169595
• ClinVar RCV Id: RCV003084911
• dbSNP Id: rs776750536
• ExAC: 17:40693182 C / T
• gnomAD v2: 17-40693182-C-T
• gnomAD v4: 17-42541164-C-T
• MyVariant Identifiers: chr17:g.40693182C>T (hg19) ; chr17:g.42541164C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541164C>T , CM000679.2:g.42541164C>T	GRCh38
NC_000017.10:g.40693182C>T , CM000679.1:g.40693182C>T	GRCh37
NC_000017.9:g.37946708C>T	NCBI36
NG_011552.1:g.10232C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.979C>T MANE Select	ENSP00000225927.1:p.Leu327Phe
ENST00000225927.6:c.979C>T	ENSP00000225927.1:p.Leu327Phe
ENST00000591587.1:c.360-1864C>T	ENSP00000467836.1:n.360-1864C>T
ENST00000592454.1:c.74C>T
NM_000263.3:c.979C>T	NP_000254.2:p.Leu327Phe
XM_006721920.2:c.148C>T	XP_006721983.1:p.Leu50Phe
XM_011524840.1:c.23-1864C>T	XP_011523142.1:n.23-1864C>T
XM_017024687.1:c.148C>T	XP_016880176.1:p.Leu50Phe
XM_024450771.1:c.1036C>T	XP_024306539.1:p.Leu346Phe
XM_024450772.1:c.23-1864C>T	XP_024306540.1:n.23-1864C>T
NM_000263.4:c.979C>T MANE Select	NP_000254.2:p.Leu327Phe